Newest Research from Belgrade

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1: Srp Arh Celok Lek 2002 Mar-Apr;130(3-4):59-63

[Analysis of mutations in the chromosome 17p11.2 region in patients with

Charcot-Marie-Tooth type 1 disease and in patients with tomaculous

neuropathy]

[Article in Serbo-Croatian (Cyrillic)] (recently translated to English)

Zamurovic N, Milic V, Dackovic J, Zamurovic D, Culjkovic B, Parlovic S,

Apostolski S, Romac S.

School of Biology, University of Belgrade, Belgrade.

ABSTRACT:

Charcot-Marie-Tooth type 1A disease (CMT1A) and hereditary neuropathy

with liability to pressure palsies (HNPP) are common inherited disorders

of the peripheral nervous system associated with duplication and

deletion, respectively, of the 17p11.2

segment including the gene of peripheral myelin protein 22. We studied

48 subjects

belonging to 29 families with clinical and electrophysiological signs of

definite CMT1, 20 patients with suspected CMT phenotype, and 17 patients

and healthy members of their families with HNPP. Blood sampling and DNA

isolation, PCR, restriction analysis,

southern blotting were performed using standard procedures. Of 48

patients with diagnosis of definite CMT1 in 25 (52%) we found a 1.5 Mb

tandem duplication in

chromosome 17p11.2. These duplications were not found in any of 20

sporadic cases with the clinical phenotype of CMT but without reliable

electrophysiological data. Only 13 (44.8%) of 29 unrelated CMT1 patients

from the first group had 17p11.2 duplications.

Three of 4 sporadic cases (75%) with definite CMT1 had 17p11.2

duplications. Of 17 patients from 6 families with HNPP deletion of

17p11.2 segment was found in 15 88.2%), as well as in 5 (83.3%) of six

unrelated cases.

Detection of CMT1A/HNPP recombination hotspot is a simple and reliable

DNA diagnostic method, which is useful only for the patients with

clinically already verified CMT1, and HNPP for further genetic

counselling of patients and members of their families.